L12M (p.Leu12Met) variant of LRP5 (O75197)
L12M (p.Leu12Met) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD 11-68312748-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.27
- CADD 4.61
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available